HELP     Sign In

Xp22.32CNV Type: Deletion-Duplication


Largest CNV size: 360000 bp

Statistics Box:
Number of Reports: 10



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Duplication
Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplica...
Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Duplication
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Deletion
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 cai_08_ASD_discovery_cases
 Unrelated individuals with autism or ASD recruited by SARC and/or AGRE
 279
 270 cases diagnosed with autism, 2 with Asperger's, 1 with PDD-NOS, 3 with not quite autism (NQA), 3 with broad spectrum autism
 Mean 7.94 yrs
 79.6% Male
 18000
 0
 16
 16
 christian_08_ASD_discovery_cases
 Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
 397
 ASD
 
 58.4% Male
 510000
 0
 1
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 206781
 0
 2
 2
 kushima_18_ASD_discovery_cases
 Individuals predominantly recruited from the middle of Honshu Island (Japan)
 1108
 Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
 Median age, 19 years
 78.0% Male
 1356133
 1
 0
 1
 lee_17_ASD/DD/ID/MCA_discovery_cases
 Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
 42
 Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
 Range, newborn-38 yrs.
 69.05% Male
 27708
 1
 0
 1
 lesca_12_EP_discovery_cases
 Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
 61
 Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
 Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
 61% Male
 38000
 0
 1
 1
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 18577
 1
 0
 1
 oikonomakis_16_ASD_discovery_cases
 ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
 195
 Cases assessed for ASD according to DSM-IV behavioral criteria
 Range, 1-38 yrs.
 64.61% Male
 99900
 0
 1
 1
 rosenfeld_10_ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 1461
 ASD
 
 
 247569
 0
 1
 1
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 29986
 6
 0
 6

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 cai_08_ASD_discovery_controls
 Controls
 248
 Controls
 
 70.2% Male
 18000
 0
 4
 4
 christian_08_ASD_discovery_controls
 Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
 372
 Controls
 
 
 360000
 0
 0
 0
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 76545
 1
 0
 1
 kushima_18_ASD/SCZ_discovery_controls
 Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
 2095
 Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
 Median age, 37 years
 52.0% Male
 0
 0
 0
 0
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 13969
 2
 0
 2
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 29986
 6
 0
 6

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 cai_08_ASD_discovery_cases
  205 Caucasian, 6 African-American, 24 Hispanic or Latino, 5 Asian, 11 mixed ethnicity, 28 unknown
 MLPA
  ABI 3130 genetic analyzer (Applied Biosystem)
 
 GeneMarker
 Direct DNA sequencing qPCR, FISH
 christian_08_ASD_discovery_cases
  235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
 aCGH
  RPCI 19K BAC microarray
 
 
 FISH, microsatellite, qPCR
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 kushima_18_ASD_discovery_cases
  Japanese
 aCGH
  NimbleGen 720K, Agilent 400K
 FASST2
 Nexus Copy Number v.9.0
 N/A
 lee_17_ASD/DD/ID/MCA_discovery_cases
  Korean
 Array SNP
  Affymetrix CytoScan 750K
 
 Affymetrix ChAS v.3.2.0.1252
 None
 lesca_12_EP_discovery_cases
  France
 aCGH
  Agilent SurePrint G3 Human CGH Microarray 4x180K
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
 None
 nord_11_ASD_discovery_cases
  29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
 aCGH
  NimbleGen HD2
 Sliding-window algorithm, ~10 kb minumum size threshold
 
 None
 oikonomakis_16_ASD_discovery_cases
  Greece
 aCGH
  Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
 
 
 None
 rosenfeld_10_ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  cai_08_ASD_discovery_controls
  Caucasian
  qPCR
  ABI Prism 7900 HT (Applied Biosystem)
 
  Sequence Detection
 
  christian_08_ASD_discovery_controls
  262 Caucasians, 100 African-Americans
  aCGH
  RPCI 19K BAC microarray
 
 
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  kushima_18_ASD/SCZ_discovery_controls
  Japanese
  aCGH
  NimbleGen 720K, Agilent 400K
  FASST2
  Nexus Copy Number v.9.0
  N/A
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  cai_08_ASD_discovery_cases-AU000504
 13.44
 F
 Autism
 Verbal language 19, Social 28, Repetitive behavior 3, Onset 4, Raven NA, Sleep disorder
 NA
 
 
  18000
 Unknown
 Duplication
 Yes
  cai_08_ASD_discovery_cases-AU001803
 4.07
 M
 Autism
 Non-verbal language 10, Social 15, Repetitive behavior 6, Onset 5, Raven 104
 NA
 
 
  18000
 Unknown
 Duplication
 Yes
  cai_08_ASD_discovery_cases-AU001804
 7.01
 M
 Broad Spectrum
 Verbal language 7, Social 3, Repetitive behavior 7, Onset 5, Raven 131
 NA
 
 
  18000
 Unknown
 Duplication
 Yes
  cai_08_ASD_discovery_cases-AU005303
 5.31
 M
 Autism
 Verbal language 15, Social 28, Repetitive behavior 4, Onset 4, Raven 107, Sleep disorder
 NA
 
 
  18000
 Unknown
 Duplication
 Yes
  cai_08_ASD_discovery_cases-AU005304
 8.46
 M
 Autism
 Verbal language 12, Social 24, Repetitive behavior 4, Onset 5, Raven 100, Sleep disorder
 NA
 
 
  18000
 Unknown
 Duplication
 Yes
  cai_08_ASD_discovery_cases-AU010804
 13.33
 M
 Autism
 Non-verbal language 14, Social 26, Repetitive behavior 8, Onset 2, Raven NA
 NA
 
 
  18000
 Unknown
 Duplication
 Yes
  cai_08_ASD_discovery_cases-AU012304
 10.51
 F
 Autism
 Verbal language 25, Social 27, Repetitive behavior 9, Onset 3, Raven 104, Sleep disorder
 NA
 
 
  18000
 Unknown
 Duplication
 Yes
  cai_08_ASD_discovery_cases-AU024203
 10.32
 M
 Autism
 Non-verbal language 14, Social 27, Repetitive behavior 9, Onset 3, Raven 104, no info on sleep disorder
 NA
 
 
  18000
 Unknown
 Duplication
 Yes
  cai_08_ASD_discovery_cases-AU024204
 12.63
 M
 Broad Spectrum
 Verbal language 9, Social 5, Repetitive behavior 2, Onset 5, Raven 53, sleep disorder
 NA
 
 
  18000
 Unknown
 Duplication
 Yes
  cai_08_ASD_discovery_cases-AU029303
 8.31
 M
 Broad Spectrum
 Non-verbal language 3, Social 12, Repetitive behavior 6, Onset 4, Raven 83, sleep disorder
 NA
 
 
  18000
 Unknown
 Duplication
 Yes
  cai_08_ASD_discovery_cases-AU029304
 10.65
 M
 Autism
 Non-verbal language 10, Social 16, Repetitive behavior 6, Onset 5, Raven 114, sleep disorder
 NA
 
 
  18000
 Unknown
 Duplication
 Yes
  cai_08_ASD_discovery_cases-AU033604
 3.95
 M
 Autism
 Non-verbal language 12, Social 15, Repetitive behavior 3, Onset 4, Raven 78, sleep disorder
 NA
 
 
  18000
 Unknown
 Duplication
 Yes
  cai_08_ASD_discovery_cases-AU033605
 6.63
 M
 Autism
 Verbal language 18, Social 23, Repetitive behavior 5, Onset 4, Raven NA, sleep disorder
 NA
 
 
  18000
 Unknown
 Duplication
 Yes
  cai_08_ASD_discovery_cases-AU037905
 5.79
 M
 Broad Spectrum
 Non-verbal language 12, Social 21, Repetitive behavior 1, Onset 4, Raven NA
 NA
 
 
  18000
 Unknown
 Duplication
 Yes
  cai_08_ASD_discovery_cases-AU037906
 7.24
 F
 Autism
 Non-verbal language 11, Social 27, Repetitive behavior 3, Onset 4, Raven NA
 NA
 
 
  18000
 Unknown
 Duplication
 Yes
  cai_08_ASD_discovery_cases-AU062603
 7.42
 M
 Autism
 Verbal language 21, Social 28, Repetitive behavior 4, Onset 4, Raven 97, sleep disorder NA
 NA
 
 
  18000
 Unknown
 Duplication
 Yes
  cai_08_ASD_discovery_cases-AU062703
 6.72
 M
 Autism
 Verbal language 23, Social 29, Repetitive behavior 5, Onset 3, Raven NA
 NA
 
 
  18000
 Unknown
 Duplication
 Yes
  cai_08_ASD_discovery_cases-AU062704
 11.93
 M
 Autism
 Verbal language 18, Social 26, Repetitive behavior 4, Onset 3, Raven NA
 NA
 
 
  18000
 Unknown
 Duplication
 Yes
  cai_08_ASD_discovery_cases-AU070908
 5.99
 F
 Autism
 Verbal language 16, Social 22, Repetitive behavior 4, Onset 1, Raven NA, sleep disorder NA
 NA
 
 
  18000
 Unknown
 Duplication
 Yes
  cai_08_ASD_discovery_cases-AU074604
 4.9
 F
 Autism
 Non-verbal language 13, Social 29, Repetitive behavior 4, Onset 3, Raven NA
 NA
 
 
  18000
 Unknown
 Duplication
 Yes
  christian_08_ASD_discovery_cases-AU0930202
 NA
 F
 ASD
 NA
 NA
 5096182
 5456612
  360431
 GRCh38
 Duplication
 Yes
  engchuan_15_ASD_discovery_cases-case14111_2000
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 5396829
 5603610
  206782
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8437_202
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 5088558
 5243513
  154956
 GRCh38
 Duplication
 No
  kushima_18_ASD_discovery_cases-caseASD0278
 11 yrs.
 M
 ASD, ID
 Developmental milestones: language delay. Behavioral/psychiatric evaluation: echolalia. Family history: negative.
 Intellectual disability (IQ < 70)
 4692064
 6048196
  1356133
 GRCh38
 Deletion
 N/A
  lee_17_ASD/DD/ID/MCA_discovery_cases-case42
 21 yrs.
 F
 Intellectual disability
 
 Intellectual disability
 5926823
 5954531
  27709
 GRCh38
 Deletion
 No
  lesca_12_EP_discovery_cases-case025a
 NA
 M
 Epilepsy
 Phenotype: i-CSWSS. Seizure Characteristics: Awake, nocturnal. Autistic features: No. ADHD features: Yes. Other features: None.
 Initial cognitive development: Delayed. Cognitive regression: Yes.
 4997214
 5035680
  38467
 GRCh38
 Duplication
 No
  nord_11_ASD_discovery_cases-213-1
 
 
 ASD
 
 
 5489063
 5507639
  18577
 Unknown
 Deletion
 No
  oikonomakis_16_ASD_discovery_cases-case473
 6 yrs.
 M
 ASD
 Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: epicanthal folds, flat nasal bridge, micrognathia, small teeth, long philtrum, high arched palate
 
 5890647
 5990619
  99973
 GRCh38
 Duplication
 No
  rosenfeld_10_ASD_discovery_cases-case18406
 NA
 NA
 ASD
 NA
 NA
 5024222
 5271791
  247569
 Unknown
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-11063.p1
 9.3
 M
 Aspergers
 NA
 Full-scale IQ, 101; non-verbal IQ, 101; verbal IQ, 103
 5567466
 5579817
  12352
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11475.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 86; verbal IQ, 110
 4830956
 4860942
  29987
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11869.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 104; verbal IQ, 86
 5567466
 5577178
  9713
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12313.p1
 11.8
 F
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 114
 5567466
 5577178
  9713
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12948.p1
 17.9
 F
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 57; verbal IQ, 81
 5387196
 5403309
  16114
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12972.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 63
 4830956
 4860942
  29987
 GRCh38
 Deletion
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  cai_08_ASD_discovery_controls-control10
  NA
 
  Control
  NA
  NA
 
 
  18000
  Unknown
  Duplication
  No
  cai_08_ASD_discovery_controls-control7
  NA
 
  Control
  NA
  NA
 
 
  18000
  Unknown
  Duplication
  No
  cai_08_ASD_discovery_controls-control8
  NA
 
  Control
  NA
  NA
 
 
  18000
  Unknown
  Duplication
  No
  cai_08_ASD_discovery_controls-control9
  NA
 
  Control
  NA
  NA
 
 
  18000
  Unknown
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902429_902429
  N/A
  N/A
  Control
  No previous psychiatric history
 
  4812746
  4889291
  76546
  GRCh38
  Deletion
  No
  nord_11_ASD_discovery_controls-04C27412
 
 
  Control
 
 
  5491535
  5505503
  13969
  Unknown
  Deletion
 
  nord_11_ASD_discovery_controls-04C28417
 
 
  Control
 
 
  5493141
  5505503
  12363
  Unknown
  Deletion
 
  sanders_11_ASD_discovery_controls-11459.s1
  14.3
  M
  Control (matched sibling)
  NA
  NA
  5567466
  5579817
  12352
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11475.s1
  5.5
  F
  Control (matched sibling)
  NA
  NA
  4830956
  4860942
  29987
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11869.s1
  5.5
  F
  Control (matched sibling)
  NA
  NA
  5567466
  5577178
  9713
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12227.s1
  10.3
  M
  Control (matched sibling)
  NA
  NA
  5567466
  5577178
  9713
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12853.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  5132800
  5143279
  10480
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13233.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  5387196
  5403309
  16114
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 cai_08_ASD_discovery_cases-AU000504
 qPCR
 
 Maternal
 NA
 NA
 1 gene (ASMT)
 
 cai_08_ASD_discovery_cases-AU001803
 qPCR
 
 Paternal
 NA
 NA
 1 gene (ASMT)
 
 cai_08_ASD_discovery_cases-AU001804
 qPCR
 
 Unknown
 NA
 NA
 1 gene (ASMT)
 
 cai_08_ASD_discovery_cases-AU005303
 qPCR
 
 Paternal
 NA
 NA
 1 gene (ASMT)
 
 cai_08_ASD_discovery_cases-AU005304
 qPCR
 
 Unknown
 NA
 NA
 1 gene (ASMT)
 
 cai_08_ASD_discovery_cases-AU010804
 qPCR
 
 Paternal
 NA
 NA
 1 gene (ASMT)
 
 cai_08_ASD_discovery_cases-AU012304
 qPCR
 
 Unknown
 NA
 NA
 1 gene (ASMT)
 
 cai_08_ASD_discovery_cases-AU024203
 qPCR
 
 Maternal
 NA
 NA
 1 gene (ASMT)
 
 cai_08_ASD_discovery_cases-AU024204
 qPCR
 
 Unknown
 NA
 NA
 1 gene (ASMT)
 
 cai_08_ASD_discovery_cases-AU029303
 qPCR
 
 Paternal
 NA
 NA
 1 gene (ASMT)
 
 cai_08_ASD_discovery_cases-AU029304
 qPCR
 
 Unknown
 NA
 NA
 1 gene (ASMT)
 
 cai_08_ASD_discovery_cases-AU033604
 qPCR
 
 Maternal
 NA
 NA
 1 gene (ASMT)
 
 cai_08_ASD_discovery_cases-AU033605
 qPCR
 
 Unknown
 NA
 NA
 1 gene (ASMT)
 
 cai_08_ASD_discovery_cases-AU037905
 qPCR
 
 Maternal
 NA
 NA
 1 gene (ASMT)
 
 cai_08_ASD_discovery_cases-AU037906
 qPCR
 
 Unknown
 NA
 NA
 1 gene (ASMT)
 
 cai_08_ASD_discovery_cases-AU062603
 qPCR
 
 Maternal
 NA
 NA
 1 gene (ASMT)
 
 cai_08_ASD_discovery_cases-AU062703
 qPCR
 
 Maternal
 NA
 NA
 1 gene (ASMT)
 
 cai_08_ASD_discovery_cases-AU062704
 qPCR
 
 Unknown
 NA
 NA
 1 gene (ASMT)
 
 cai_08_ASD_discovery_cases-AU070908
 qPCR
 
 Maternal
 NA
 NA
 1 gene (ASMT)
 
 cai_08_ASD_discovery_cases-AU074604
 qPCR
 
 Paternal
 NA
 NA
 1 gene (ASMT)
 
 christian_08_ASD_discovery_cases-AU0930202
 FISH, microsatellite
 
 inherited
 Multiplex
 NA
 MTND6P12,MTCYBP12
 
 engchuan_15_ASD_discovery_cases-case14111_2000
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8437_202
 
 
 Unknown
 
 
 MTND6P12,MTCYBP12
 
 kushima_18_ASD_discovery_cases-caseASD0278
 While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
 Unknown
 Simplex
 Unknown
 MTND6P12,MTCYBP12,NLGN4X
 
 lee_17_ASD/DD/ID/MCA_discovery_cases-case42
 
 
 Unknown
 
 
 NLGN4X
 
 lesca_12_EP_discovery_cases-case025a
 
 
 Unknown
 Unknown
 Unknown
 
 
 nord_11_ASD_discovery_cases-213-1
 
 
 Maternal
 
 
 0 genes
 
 oikonomakis_16_ASD_discovery_cases-case473
 
 
 Unknown
 
 
 NLGN4X
 
 rosenfeld_10_ASD_discovery_cases-case18406
 FISH
 
 Maternal
 Unknown
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-11063.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11475.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11869.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-12313.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12948.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12972.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
cai_08_ASD_discovery_controls-control10
 
 
  Unknown
  NA
  NA
  1 gene (ASMT)
 
cai_08_ASD_discovery_controls-control7
 
 
  Unknown
  NA
  NA
  1 gene (ASMT)
 
cai_08_ASD_discovery_controls-control8
 
 
  Unknown
  NA
  NA
  1 gene (ASMT)
 
cai_08_ASD_discovery_controls-control9
 
 
  Unknown
  NA
  NA
  1 gene (ASMT)
 
engchuan_15_ASD_discovery_controls-controlHABC_902429_902429
 
 
  Unknown
 
 
 
 
nord_11_ASD_discovery_controls-04C27412
 
 
 
 
 
  0 genes
 
nord_11_ASD_discovery_controls-04C28417
 
 
 
 
 
  0 genes
 
sanders_11_ASD_discovery_controls-11459.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11475.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11869.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12227.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12853.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13233.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
HELP
Copyright © 2017 MindSpec, Inc.